Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/327707
Type: Artigo
Title: Clinical profile and molecular characterization of galactosemia in Brazil: identification of seven novel mutations
Author: Garcia, Daniel F.
Camelo Junior, Jose S.
Molfetta, Greice A.
Turcato, Marlene
Souza, Carolina F. M.
Porta, Gilda
Steiner, Carlos E.
Silva Junior, Wilson A.
Abstract: Classical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. It is transmitted as an autosomal recessive disease and is typically characterized by neonatal galactose
Subject: Alelos
Genótipo
Recém-nascidos
Country: Reino Unido
Editor: Springer Nature
Rights: Aberto
Identifier DOI: 10.1186/s12881-016-0300-8
Address: https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-016-0300-8
Date Issue: 2016
Appears in Collections:FCM - Artigos e Outros Documentos

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